Details of EHMT1 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| EHMT1 | EUHMTASE1,GLP,KIAA1876,KMT1D | Q9H9B1 | EHMT1_HUMAN | 79813 | ENSG00000181090 | Histone-lysine N-methyltransferase EHMT1 | SPROT |
Disease |
Disease |
OMIM id |
Kleefstra syndrome (KLESTS) [MIM:610253]: A syndrome characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, and facial dysmorphisms. Additionally, congenital heart defects, urogenital defects, epilepsy and behavioral problems are frequently observed. Note=The disease is caused by mutations affecting the gene represented in this entry (PubMed:16826528). The syndrome can be either caused by intragenic EHMT1 mutations leading to haploinsufficiency of the EHMT1 gene or by a submicroscopic 9q34.3 deletion. Although it is not known if and to what extent other genes in the 9q34.3 region contribute to the syndrome observed in deletion cases, EHMT1 seems to be the major determinant of the core disease phenotype (PubMed:19264732). |
610253 |
Phenotypes
Abnormal aggressive, impulsive or violent behavior, Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal emotion/affect behavior, Abnormal external genitalia, Abnormal facial shape, Abnormal hair quantity, Abnormal internal genitalia, Abnormality of body weight, Abnormality of calvarial morphology, Abnormality of dental eruption, Abnormality of facial skeleton, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of immune system physiology, Abnormality of limb bone morphology, Abnormality of lower lip, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of primary teeth, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the bronchi, Abnormality of the calvaria, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the chin, Abnormality of the ear, Abnormality of the esophagus, Abnormality of the external nose, Abnormality of the eye, Abnormality of the eyebrow, Abnormality of the eyelid, Abnormality of the face, Abnormality of the foot, Abnormality of the forebrain, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the head, Abnormality of the heart, Abnormality of the immune system, Abnormality of the integument, Abnormality of the kidney, Abnormality of the lip, Abnormality of the lower limb, Abnormality of the lower urinary tract, Abnormality of the lung, Abnormality of the male genitalia, Abnormality of the mandible, Abnormality of the midface, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nares, Abnormality of the nasal alae, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the oral cavity, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the palpebral fissures, Abnormality of the penis, Abnormality of the periorbital region, Abnormality of the pinna, Abnormality of the respiratory system, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the stomach, Abnormality of the teeth, Abnormality of the testis, Abnormality of the tongue, Abnormality of the trachea, Abnormality of the tracheobronchial system, Abnormality of the upper respiratory tract, Abnormality of the upper urinary tract, Abnormality of the urethra, Abnormality of the urinary system, Abnormality of the zygomatic arch, Abnormality of upper lip, Abnormality of upper lip vermillion, Abnormal muscle tone, Abnormal nasal morphology, Advanced eruption of teeth, Aggressive behavior, All, Anteverted nares, Apathy, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Autism, Autism spectrum disorder, Autosomal dominant inheritance, Behavioural/Psychiatric Abnormality, Brachycephaly, Bronchomalacia, Coarse facial features, Cognitive impairment, Conotruncal defect, Cryptorchidism, Delayed speech and language development, Displacement of the external urethral meatus, Everted lower lip vermilion, Facial hypertrichosis, Gastroesophageal reflux, Genital hypoplasia, Growth abnormality, Hearing abnormality, Hearing impairment, Hypertelorism, Hypertrichosis, Hypoplasia of penis, Hypoplastic genitalia, Hypospadias, Increased body weight, Intellectual disability, Kidney malformation, Macroglossia, Malar flattening, Malformation of the heart and great vessels, Mandibular prognathia, Medial flaring of the eyebrow, Microcephaly, Micropenis, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle hypertrophy, Muscular hypotonia, Natal tooth, Obesity, Persistence of primary teeth, Phenotypic abnormality, Positional foot deformities, Protruding tongue, Recurrent infections, Recurrent respiratory infections, Respiratory tract infection, Seizures, Slanting of the palpebral fissure, Sleep disturbance, Stereotypic behavior, Synophrys, Talipes, Talipes equinovarus, Tracheobronchomalacia, Tracheomalacia, Upslanted palpebral fissure, U-Shaped upper lip vermilion.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Ehmt1 | G9a | --- | Sp-Ehmt1-2 |